W30L (p.Trp30Leu) variant of SMAD3 (SMAD family member 3)
W30L (p.Trp30Leu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
W30L (p.Trp30Leu) variant details
- p.Trp30Leu
- gnomAD 15-67164901-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available